Publications by authors named "M Hadjivassiliou"
Background And Aims: In coeliac disease, the clinical role of the urinary gluten immunogenic peptide is unclear. It has been suggested it can be a non-invasive marker of villous atrophy. Therefore, we present the largest cross-sectional clinical data in patients with coeliac disease to establish the diagnostic accuracy of the urinary gluten immunogenic peptide in identifying villous atrophy.
View Article and Find Full Text PDFBackground: Anti-gliadin antibodies (AGA) occur in approximately 10% of the general population, produced as a response to gluten. Autoimmune gluten-related disorders can have detrimental neurological effects if not properly controlled but the relevance of such "incidental" AGA is not properly established; any harm caused would indicate the gluten-free diet as a means for affected people to protect their brain health. We explored this question by comparing brain MRI scanning, cognitive testing and other measures between healthy volunteers with and without AGA.
View Article and Find Full Text PDFArticle Synopsis
- The research links the TUBA4A gene to familial amyotrophic lateral sclerosis (fALS) and fronto-temporal dementia (FTD), identifying pathogenic variants in patients with these conditions.* -
- A study of 448 patients with cerebellar ataxia revealed ultra-rare, likely harmful TUBA4A variants not found in public databases, indicating a potential genetic cause for this condition.* -
- Analysis showed a significant presence of TUBA4A mutations in inherited ataxia cases compared to controls, with experiments on patient-derived fibroblasts revealing disruptions in microtubule organization linked to the mutations.*
Unlabelled: We report on a group of patients with gluten sensitivity with and without coeliac disease presenting with unexplained sensory symptoms in the absence of structural pathology.
Methods: The patients were selected from the gluten neurology clinic based at the Royal Hallamshire Hospital, Sheffield, UK, on the basis of sensory symptoms but normal neuroaxis imaging and peripheral nerve evaluation.
Results: A total of 30 patients were identified with a mean age at presentation of 47 years.
Article Synopsis
- Neuromuscular disorders can lead to muscle weakness and include serious conditions like amyotrophic lateral sclerosis (ALS) and myopathies.
- Raman spectroscopy is being evaluated as a diagnostic tool to detect abnormal protein structures in muscles affected by these disorders, aiming to identify specific changes in protein folding.
- The study found that myopathic conditions showed reduced α-helix structures and increased β-sheet structures, with Raman spectroscopy achieving high accuracy in identifying myopathy in both preclinical and human samples.